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Article

Recurrent FOXP4 nonsense variant in two unrelated patients: Association with neurodevelopmental disease and congenital diaphragmatic hernia.

American journal of medical genetics. Part A - 1 Jan 2023

Del Viso Florencia, Zhou Dihong, Thiffault Isabelle, Lawson Caitlin, Cross Laura, Jenkins Janda, Rush Eric, Saunders Carol

Abstract excerpt

De novo variants in FOXP4 were recently associated with a neurodevelopmental disorder characterized by speech and language delay, growth abnormalities, hypotonia, and variable congenital abnormalities, including congenital diaphragmatic hernia, cervical spine abnormalities, strabismus, cryptorchidism, and ptosis. The variant spectrum in this small cohort was limited to de novo missense except for one frameshift,...

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PMID: 36301021
DOI: 10.1002/ajmg.a.63006

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